Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825189108

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1770093

ClinVar RCV Id: RCV002385876 RCV003759667

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Glu44Asp	CA366745003 NM_000535.7:c.132A>T CA366745004 NM_000535.7:c.132A>C